16p11.2 deletion in patients with paroxysmal kinesigenic dyskinesia but without intellectual disability.

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This study found that 16p11.2 deletions involving the PRRT2 gene can cause sudden, movement-triggered involuntary movements (paroxysmal kinesigenic dyskinesia) in some individuals who have normal intelligence and development, suggesting that the range of symptoms associated with 16p11.2 deletions is broader than previously recognized and that families should be aware movement disorders can be part of the picture even without intellectual disability.